Neurometabolic disorders are a group of conditions causing problems with both metabolism (how cells chemically break down nutrients to get energy) and brain function. We see children with known metabolic disorders that include neurological signs and symptoms, as well as children with developmental delays or known neurological problems that turn out, on further testing, to stem from metabolic disorders.
Neurometabolic disorders are complex, have many causes, and can affect any organ in the body, often affecting two or more organ systems. They are generally rare and often poorly understood.
Boston Children’s Hospital’s Neurometabolic Program provides consultations and care for children with a wide variety of developmental, neurological, and medical concerns.
Our care team consists of two physicians:
- Irina Anselm, MD, a child neurologist who specializes in the management of mitochondrial disorders and leads the Mitochondrial Program
- Gerard T. Berry, MD, an expert in metabolic disorders and the director of the Metabolism Program within the Division of Genetics and Genomics at Boston Children's Hospital.
Together with genetic counselors and other specialists at Boston Children’s Hospital, our doctors work with families to provide a customized, comprehensive care plan for each child. This can include diagnostic testing, medical management, and supports for children with developmental delays.
About neurometabolic disorders
The umbrella of neurometabolic disorders covers a wide variety of conditions, including:
- Organic acidurias, a group of inherited metabolic disorders in which an essential enzyme that breaks down amino acids (which make up proteins) does not work properly. This results in a toxic buildup of certain acids in the body and a deficiency of other necessary chemicals. This chemical imbalance prevents normal body functioning and can cause a variety of symptoms that can vary in severity.
- Amino acidopathies, a group of disorders caused in a similar manner as the organic acidurias, but instead involving the buildup of different amino acids in the body and deficiencies of certain other chemicals. They include phenylketonuria (PKU) and tyrosinemia.
- Neuronal ceroid lipofuscinoses (NCLs), a group of neurodegenerative disorders caused by the harmful accumulation of lipofuscins (compounds made up of fats and proteins) in the body's tissues. Signs and symptoms vary in severity and in when they first appear, but may include seizures, vision loss, and loss of developmental skills. Batten’s disease is an example of an NCL.
- Urea cycle disorders, caused by a faulty enzyme within the urea cycle, a metabolic process responsible for eliminating the toxic chemical ammonia from the body. A buildup of ammonia can cause life-threatening neurological complications, but these disorders can sometimes be mild.
- Peroxisomal disorders: Peroxisomes are the part of the cell typically responsible for both breaking down chemicals, such as toxins or very long chain lipids (fats), and for producing lipids. When peroxisomes are not working properly, a wide variety of types of symptoms and signs can result. Specific peroxisomal disorders include Zellweger syndrome and Refsum disease.
- Mitochondrial diseases, a group of disorders caused by malfunctioning mitochondria, the part of the cell that generates energy. The decreased energy production can cause a wide variety of disorders and symptoms, which can include problems with growth, vision, hearing, breathing, muscle strength, learning, and gastrointestinal and neurological problems.
- Lysosomal storage disorders: Lysosomes are the part of the cell that gets rid of the cell’s waste products. When there are defects in the enzymes that help break these products down, the waste products accumulate in the cell, causing varied symptoms that can include developmental delay, neurological problems, seizures, hearing and vision loss, and enlarged liver and/or spleen. Examples of lysosomal storage disorders include Tay-Sachs disease, Niemann-Pick disease, and Gaucher disease.
- Leukodystrophies, a group of disorders characterized by defects in the white matter of the brain — specifically, genetic defects in the myelin that insulates nerve fibers. This can be diagnosed through an MRI of the brain, and symptoms generally get progressively worse. Metachromatic leukodystrophy and adrenoleukodystrophy are examples of these disorders.
Many children being evaluated and cared for by our program at Boston Children's Hospital will not have one specific diagnosis, rather a variety of general medical and developmental symptoms that our team will help to diagnose and manage.